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ACER2 Gene

protein-coding   GIFtS: 53
GCID: GC09P019408

Alkaline Ceramidase 2

(Previous name: N-acylsphingosine amidohydrolase 3-like)
(Previous symbol: ASAH3L)
  See ACER2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Alkaline Ceramidase 21 2     haCER22 3
ASAH3L1 2 3     ALKCDase22
N-Acylsphingosine Amidohydrolase 3-Like1 3     Ceramide Hydrolase2
Alkaline CDase 22 3     EC 3.5.1.233
AlkCDase 22 3     Acylsphingosine Deacylase 3-Like3

External Ids:    HGNC: 236751   Entrez Gene: 3404852   Ensembl: ENSG000001770767   OMIM: 6134925   UniProtKB: Q5QJU33   

Export aliases for ACER2 gene to outside databases

Previous GC identifer: GC09P019400


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACER2 Gene:
The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its
precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to
generate sphingosine (Xu et al., 2006 (PubMed 16940153)).(supplied by OMIM, Jul 2010)

GeneCards Summary for ACER2 Gene:
ACER2 (alkaline ceramidase 2) is a protein-coding gene. Diseases associated with ACER2 include lipogranulomatosis, and farber lipogranulomatosis. GO annotations related to this gene include dihydroceramidase activity and ceramidase activity. An important paralog of this gene is ACER1.

UniProtKB/Swiss-Prot: ACER2_HUMAN, Q5QJU3
Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain
ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are
good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The
substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0),
C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides >
D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the
Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine.
Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation
and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate

Gene Wiki entry for ACER2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACER2 gene promoter:
         Elk-1   USF1   GATA-3   AP-1   LCR-F1   GATA-1   GATA-2   USF-1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACER2 promoter sequence
   Search Chromatin IP Primers for ACER2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACER2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9p22.1   Ensembl cytogenetic band:  9p22.1   HGNC cytogenetic band: 9p21.3

ACER2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACER2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P019408:  view genomic region     (about GC identifiers)

Start:
19,408,925 bp from pter      End:
19,452,500 bp from pter
Size:
43,576 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ACER2_HUMAN, Q5QJU3 (See protein sequence)
Recommended Name: Alkaline ceramidase 2  
Size: 275 amino acids; 31309 Da
Secondary accessions: A2A3R8 Q569G5 Q5VZR7 Q71RD2
Alternative splicing: 3 isoforms:  Q5QJU3-1   Q5QJU3-2   Q5QJU3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACER2: NX_Q5QJU3

Explore proteomics data for ACER2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn23

  • See ACER2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001010887.2  
    ENSEMBL proteins: 
     ENSP00000342609   ENSP00000369735  
    Reactome Protein details: Q5QJU3

    ACER2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ACER: Alkaline ceramidase

    1 InterPro protein domain:
     IPR008901 Ceramidase

    Graphical View of Domain Structure for InterPro Entry Q5QJU3

    ProtoNet protein and cluster: Q5QJU3

    1 Blocks protein domain: IPB008901 Alkaline phytoceramidase

    UniProtKB/Swiss-Prot: ACER2_HUMAN, Q5QJU3
    Similarity: Belongs to the alkaline ceramidase family


    Find genes that share domains with ACER2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACER2_HUMAN, Q5QJU3
    Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain
    ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are
    good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The
    substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0),
    C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides >
    D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the
    Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine.
    Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation
    and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate
    Catalytic activity: N-acylsphingosine + H(2)O = a carboxylate + sphingosine
    Enzyme regulation: Specifically activated by lumenal, but not cytosolic Ca(2+). Inhibited by Zn(2+) or Cu(2+).
    Mg(2+) or Mn(2+) have no effect on ceramidase activity
    Biophysicochemical properties: Kinetic parameters: KM=81 uM for D-erythro-C(24:1)-ceramide (at 37 degrees Celsius
    and pH 9.0); Vmax=27 pmol/min/mg enzyme with D-erythro-C(24:1)-ceramide as substrate; pH dependence: Optimum pH
    is 7.5-9.0;

         Enzyme Number (IUBMB): EC 3.5.1.231

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016811hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides ----
    GO:0017040ceramidase activity IDA16940153
    GO:0071633dihydroceramidase activity IDA--
         
    Find genes that share ontologies with ACER2           About GenesLikeMe


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidACER2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACER2_HUMAN, Q5QJU3: Golgi apparatus membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane3
    endoplasmic reticulum1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus IDA16940153
    GO:0016021integral component of membrane ----
    GO:0030173integral component of Golgi membrane IDA--

    Find genes that share ontologies with ACER2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACER2 About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Sphingolipid de novo biosynthesis0.46
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3sphingosine and sphingosine-1-phosphate metabolism
    sphingosine and sphingosine-1-phosphate metabolism


    Find genes that share SuperPaths with ACER2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ACER2
        sphingosine and sphingosine-1-phosphate metabolism

    1 Reactome Pathway for ACER2
        Sphingolipid de novo biosynthesis


    2 Kegg Pathways  (Kegg details for ACER2):
        Sphingolipid metabolism
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ACER2
    Interactions:

        Search GeneGlobe Interaction Network for ACER2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ACER2 (ENSP000003426094) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CERKENSP000002162644STRING: ENSP00000216264
    DEGS1ENSP000003164764STRING: ENSP00000316476
    ENPP7ENSP000003326564STRING: ENSP00000332656
    GBAENSP000003145084STRING: ENSP00000314508
    SGPP1ENSP000002472254STRING: ENSP00000247225
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    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001953negative regulation of cell-matrix adhesion IDA18945876
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006672ceramide metabolic process IEA--
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IMP--
    GO:0008284positive regulation of cell proliferation IDA16940153

    Find genes that share ontologies with ACER2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACER2

    Selected HMDB Compounds for ACER2 (see all 123)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACER2 gene: 
    NM_001010887.2  

    Unigene Cluster for ACER2:

    Alkaline ceramidase 2
    Hs.41379  [show with all ESTs]
    Unigene Representative Sequence: AK123581
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340967(uc003znx.1 uc003zny.1 uc003znz.1) ENST00000380376

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    hsa-miR-3673 hsa-miR-125a-5p hsa-miR-188-5p hsa-let-7d hsa-miR-575 hsa-miR-1271 hsa-let-7c hsa-let-7g
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      QuantiFast Probe-based Assays in human, mouse, rat ACER2

    Additional mRNA sequence: 

    AF370405.1 AK123581.1 AY312516.1 BC092487.1 

    4 DOTS entries:

    DT.105839  DT.40290454  DT.100652251  DT.121154936 

    14 AceView cDNA sequences:

    AK123581 BX646596 AF370405 AA309752 AI168043 BX112888 BQ081995 AI033878 
    CF593785 BX482955 BF839613 R96782 H90930 H90280 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for ACER2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
    SP1:                                                      
    SP2:              -                                       


    ECgene alternative splicing isoforms for ACER2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ACER2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACER2 Expression
    About this image


    ACER2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Heart (Cardiovascular System)
             Endocardium
    ACER2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACER2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.41379

    UniProtKB/Swiss-Prot: ACER2_HUMAN, Q5QJU3
    Tissue specificity: Highly expressed in placenta

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACER2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ACER2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acer21 , 5 alkaline ceramidase 21, 5 88.48(n)1
    93.09(a)1
      4 (40.69 cM)5
    2303791  NM_139306.21  NP_647467.11 
     868743965 
    chicken
    (Gallus gallus)
    Aves ACER21 alkaline ceramidase 2 80.85(n)
    90.55(a)
      427235  XM_424820.3  XP_424820.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACER26
    alkaline ceramidase 2
    87(a)
    1 ↔ 1
    2(62424966-62450138)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.109892 Xenopus laevis transcribed sequence with weak similarity more 75.29(n)    BJ060795.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003311791 alkaline ceramidase 2-like 72.85(n)
    82.55(a)
      100331179  XM_002663031.3  XP_002663077.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta bwa1 brain washing 57.16(n)
    48.67(a)
      250736  NM_001273687.1  NP_001260616.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_W02F12.21 CELE_W02F12.2 44.31(n)
    30.16(a)
      189124  NM_072296.5  NP_504697.2 


    ENSEMBL Gene Tree for ACER2 (if available)
    TreeFam Gene Tree for ACER2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACER2 gene
    ACER12  
    1 SIMAP similar gene for ACER2 using alignment to 1 protein entry:     ACER2_HUMAN:
    ACER1

    Find genes that share paralogs with ACER2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ACER2
    PGOHUM00000240501


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACER2 (see all 1149)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs795306551,2
    C,F--19406964(+) GGAACC/TACACT 1 -- us2k12Minor allele frequency- T:0.07NA 122
    rs1829727831,2
    --19407179(+) CACCCC/TAACCG 1 -- us2k10--------
    rs1858056531,2
    --19407426(+) TGATCC/TGCCTG 1 -- us2k10--------
    rs1914986831,2
    --19407468(+) CATGAA/GCCACC 1 -- us2k10--------
    rs1388608541,2
    --19407470(+) TGAGCC/TACCGC 1 -- us2k10--------
    rs1419852811,2
    --19407484(+) CGGCCC/GTCAAC 1 -- us2k10--------
    rs92988001,2
    C,F,A,H--19407494(+) CCGCCT/CTTCTT 1 -- us2k1 tfbs324Minor allele frequency- C:0.40NS EA NA WA CSA 2354
    rs1446653621,2
    --19407581(+) CTTGGA/GTTCTG 1 -- us2k10--------
    rs793706331,2
    C,F--19407605(+) TTGCCC/TGTAAA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1827762861,2
    --19407623(+) GAAGGC/GATAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ACER2 (19408925 - 19452500 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ACER2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1361979CNV Deletion17803354
    esv2738260CNV Deletion23290073
    nsv416048CNV Loss16902084
    nsv524474CNV Gain19592680
    nsv466286CNV Gain19166990
    nsv831524CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACER2
    DNA2.0 Custom Variant and Variant Library Synthesis for ACER2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613492    OMIM disorders: --

    2 diseases for ACER2:    
    About MalaCards
    lipogranulomatosis    farber lipogranulomatosis

    1 disease from the University of Copenhagen DISEASES database for ACER2:
    Farber lipogranulomatosis

    Find genes that share disorders with ACER2           About GenesLikeMe

    Genetic Association Database (GAD): ACER2
    Human Genome Epidemiology (HuGE) Navigator: ACER2 (1 document)

    Export disorders for ACER2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACER2 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with ACER2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alkaline ceramidase 2 regulates beta1 integrin maturation and cell adhesion. (PubMed id 18945876)1, 2, 3, 9 Sun W.... Mao C. (FASEB J. 2009)
    2. Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2). (PubMed id 20089856)1, 2, 9 Sun W....Mao C. (J. Biol. Chem. 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Golgi alkaline ceramidase regulates cell proliferation and survival by controlling levels of sphingosine and S1P. (PubMed id 16940153)1, 2 Xu R.... Mao C. (FASEB J. 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    7. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    8. Alkaline ceramidase 2 (ACER2) and its product dihydrosphingosine mediate the cytotoxicity of N-(4-hydroxyphenyl)retinamide in tumor cells. (PubMed id 20628055)1 Mao Z....Mao C. (J. Biol. Chem. 2010)
    9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 340485 HGNC: 23675 AceView: ASAH3L Ensembl:ENSG00000177076 euGenes: HUgn340485
    ECgene: ACER2 Kegg: 340485 H-InvDB: ACER2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACER2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACER2 gene:
    Search GeneIP for patents involving ACER2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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